Summaries for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

UniProtKB/Swiss-Prot :73
Immunodeficiency due to defect in MAPBP-interacting protein: This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.

MalaCards based summary :
Immunodeficiency Due to Defect in Mapbp-Interacting Protein, is also known as primary immunodeficiency syndrome due to lamtor2 deficiency. An important gene associated with Immunodeficiency Due to Defect in Mapbp-Interacting Protein is LAMTOR2 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2). Affiliated tissues include b cells, t cells and neutrophil, and related phenotypes are coarse facial features and short stature